Ehlers-Danlos syndrome: type VI A – kyphoscoliosis; a case report

Abstract

Ehlers-Danlos syndrome (EDS) is a clinically heterogeneous groupof inherited disorders with ten different types, all involving agenetic defect in collagen and connective-tissue synthesis andstructure that affecting the skin, joints, and blood vessels. EDStype VIA, a very rare kyphoscoliotic type, is autosomal recessiveand clinically characterized by soft extensible skin, laxity ofjoints and kyphoscoliosis. We present a case of an adult malepatient complaining of recurrent acne over the chin, axilla andpyoderma in the groin region since he was 14 years of age. Pastmedical history was positive for recurrent pyoderma whichhealed with scarring, bleeding tendency, double vision andbackache. On examination, the patient had hyperextensible skin,joint hypermobility, kyphoscoliosis, easy bruisability, and scleralfragility. Urinary analysis revealed a decrease in the hydroxylysylpyidinolineto lysl-pyridinoline ratio indicative of EDS type VIAwith a severely reduced Lysyl Hydroxylase (LH) activity in theskin fibroblast culture..